|
rs10815148
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genotype-phenotype analysis showed 3 JAK2 SNPs (rs7046736, rs10815148, and rs12342421) to be significantly but reciprocally associated with PV (P < .001 for all; odds ratio = 0.16, 2.72, and 2.46, respectively) and ET (P < .001 for all; odds ratio = 3.05, 0.29, and 0.30, respectively) but not with PMF.
|
18006699 |
2008 |
|
rs10974944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped 149 myeloproliferative neoplasms patients (69 had polycythemia vera, 65 had essential thrombocythemia, and 15 had primary myelofibrosis) with a known JAK2 V617F mutational status and 150 controls for the JAK2 rs10974944 (C/G) single nucleotide polymorphism, in which the G allele tags the 46/1 haplotype.
|
20422415 |
2010 |
|
rs10974947
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF.
|
18006699 |
2008 |
|
rs1131691026
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we generated an induced Pluripotent Stem (iPS) cell line derived from a 65-year old male PMF patient carrying the 5-pb insertion in the CALR gene (CALR<sup>ins5</sup>) and the c.437 G > A mutation in the TP53 gene (p.W146X).
|
30343103 |
2018 |
|
rs1131691903
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.
|
28453180 |
2017 |
|
rs1206165503
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we generated an induced Pluripotent Stem (iPS) cell line derived from a 65-year old male PMF patient carrying the 5-pb insertion in the CALR gene (CALR<sup>ins5</sup>) and the c.437 G > A mutation in the TP53 gene (p.W146X).
|
30343103 |
2018 |
|
rs121912656
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6).
|
22052707 |
2012 |
|
rs121913499
|
|
|
0.010 |
GeneticVariation |
BEFREE |
IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; post-PMF AML).
|
20410924 |
2010 |
|
rs121913502
|
|
|
0.010 |
GeneticVariation |
BEFREE |
IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples).
|
20410924 |
2010 |
|
rs121913505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The point mutation in the N-terminal part of the domain, codon 52 (Asp-->Asn), was found in two patients with primary myelofibrosis and one with chronic myelogenous leukemia.
|
9168438 |
1997 |
|
rs121913614
|
|
A |
0.730 |
GeneticVariation |
CLINVAR |
Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis.
|
20151976 |
2010 |
|
rs121913614
|
|
|
0.730 |
GeneticVariation |
BEFREE |
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO).
|
20113333 |
2010 |
|
rs121913614
|
|
A |
0.730 |
GeneticVariation |
CLINVAR |
New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.
|
18528423 |
2008 |
|
rs121913614
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy.
|
19713221 |
2010 |
|
rs121913614
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence.
|
31697803 |
2020 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.
|
19194467 |
2009 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF).
|
28990497 |
2018 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The clinical and haematological phenotype of patients with myelofibrosis harbouring MPL(W515L/K) mutation has not been thoroughly investigated.
|
17408465 |
2007 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant allelic burden of JAK2(V617F), but not of MPL(W515L) which, by contrast to JAK2(V617F), shows a higher percentage of mutated alleles in fibrotic than in prefibrotic cases.
|
19616600 |
2009 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence.
|
31697803 |
2020 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Of 217 patients with myelofibrosis, 19 (8.7%) harbored the MPLW515 mutation, 10 (52.6%) with the W515L allele.
|
18669880 |
2008 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF.
|
16834459 |
2006 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary myelofibrosis and essential thrombocythemia.
|
19261614 |
2009 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The other three cases of PMF with 1p uniparental disomy had point mutations of the MPL gene, either a novel mutation (S204F) or the previously described W515L.
|
18723266 |
2008 |
|
rs121913615
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocythemia (ET, 1.0%) and was not detected in patients with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and chronic myelogenous leukemia (CML).
|
18464114 |
2008 |